PKP1

GENE INFORMATION

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Gene name

PKP1 (HGNC Symbol)

Synonyms

B6P

Description

Plakophilin 1 (HGNC Symbol)

Entrez gene summary

This gene encodes a member of the arm-repeat (armadillo) and plakophilin gene families. Plakophilin proteins contain numerous armadillo repeats, localize to cell desmosomes and nuclei, and participate in linking cadherins to intermediate filaments in the cytoskeleton. This protein may be involved in molecular recruitment and stabilization during desmosome formation. Mutations in this gene have been associated with the ectodermal dysplasia/skin fragility syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]

Chromosome

1

Cytoband

q32.1

Chromosome location (bp)

201283452 - 201332993

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000081277 (version 78.38)

Entrez gene

5317

UniProt

Q13835 (UniProt - Evidence at protein level)

neXtProt

NX_Q13835

Antibodypedia

PKP1 antibodies
 

PROTEIN VIEW

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PKP1-001
 
PKP1-004
 
PKP1-201
 
PKP1-202
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PKP1-001 ENSP00000356293
ENST00000367324
Q13835
Show all »
Show » Show » 726 80.5 No 0
PKP1-004 ENSP00000295597
ENST00000352845
Q13835
Show all »
Show » Show » 747 82.9 No 0
PKP1-201 ENSP00000263946
ENST00000263946
Q13835
Show all »
Show » Show » 747 82.9 No 0
PKP1-202 ENSP00000482213
ENST00000622031
Q14BN3
Show all »
Show » Show » 725 80.5 No 0